Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral domain optical coherence tomography: a review of the literature and a report of a case

Background: Retinal astrocytic hamartoma (RAH) is a tumor that can be sporadic or in the context of tuberous sclerosis complex (TSC) and has been reported to be associated with neurofibromatosis type 1 (NF1) in a few cases. Patient and methods: A 65-year-old male patient with NF1 was referred for ophthalmological evaluation. Comprehensive examination, near-infrared reflectance (NIR), spectral-domain optical coherence tomography (SDOCT), fluorescein angiography (FFA), and indocyanine green angiography (ICGA) were carried out. The follow-up of the patient was at 4 and 7 years. Results: Best-corrected visual acuity (BCVA) was 20/20 in both eyes. Anterior segment examination revealed bilateral Lisch nodules. Fundus examination was unremarkable but at NIR and SDOCT the patient presented choroidal hamartoma, microvascular retinal alterations, and enlarged choroidal vessels in both eyes. NIR also revealed an unusual area of peripapillary hyporeflectivity in the right eye. On SDOCT, this corresponded to an elevated peripapillary mass characterized by intralesional optically empty cavities in the retinal nerve fiber layer (RNFL) and ganglion cell layer-inner plexiform layer (GCL-IPL), diagnosed as a RAH. Four years later, BCVA was 20/25 with a retinal schisis departing from the lesion to the macula. At 7 years, BCVA was stable at 20/25, the lesion was smaller, and there was a slight reduction of the schisis. Conclusion: RAH is a rare finding in NF1 and the translucent type has not been previously reported. RAH in NF1 has a peripapillary location and demonstrates clinically unpredictable behavior; thus, close monitoring with multimodal imaging is advisable.